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Gene research uncovers potential clues about epilepsy

Living with a neurological disorder can be a test of perseverance and hope. Although researchers continue to make striders in their understanding of the origins and causes of various mental disabilities, many questions remain unanswered.

A recent study funded by the U.S. National Institutes of Health marks another step forward, and its results may even have broad reaching applications. Researchers have developed a technique for locating gene mutations. Called exome sequencing, the procedure relies on DNA data to search for non-inherited mutations in a person’s genetic material.

In this case, the procedure was specifically applied for a search for a gene associated with childhood epilepsy. The procedure identified two new genes, as well as four other known genes. In those six genes, researchers found 25 mutations.

With medication and treatment, many individuals with epilepsy are able to maintain a consistent and active lifestyle. Various medications have reduced the frequency, as well as severity of epileptic seizures for many individuals. Although the possibility of a seizure may preempt an epileptic from certain jobs, a wealth of other work arrangements may be possible.

For some, however, treatments may be ineffective at avoiding recurrent and severe seizures that result in a lack of consciousness. The Social Security Administration recognizes this condition as convulsive epilepsy in its Listing of Impairments. A person with this condition might qualify for Social Security disability insurance payments. Other forms of epilepsy or seizure disorders, involving less frequent or severe episodes, are not necessarily ineligible. The key determination is often based on functionality -- how the disability affects an individual’s daily life and ability to perform any type of work.

Source:, “New Genetic Clues to Severe Childhood Epilepsy,” Aug. 11, 2013

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